High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence

BACKGROUND: Wilson’s disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain. The WD phenotype varies in terms of its clinical presentation and intensity. Diagnosing this metabolic disor...

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Detalles Bibliográficos
Autores principales: Collet, Corinne, Laplanche, Jean-Louis, Page, Justine, Morel, Hélène, Woimant, France, Poujois, Aurélia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6086069/
https://www.ncbi.nlm.nih.gov/pubmed/30097039
http://dx.doi.org/10.1186/s12881-018-0660-3

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